LPL
GTR Test Accession: Help GTR000521437.1
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2015-03-06
Last annual review date for the lab: 2023-11-07 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I
Genes (1): Help
LPL (8p21.3)
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Paraffin block
  • Saliva
  • Skin
  • Sputum
  • Urine
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
LPL
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
send DNA and written informed consent of patient, billing address
Order URL
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive; Risk Assessment; Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity > 95%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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